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Endocrinology, Diabetes & Metabolism|December 20, 2022
Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, ItalyValentina Rovelli, Graziella Cefalo, Vittoria Ercoli, et al.European Journal of Pediatrics|April 28, 2026
Perceived severity and parental distress after positive expanded newborn screening: parent-clinician concordance and dyadic processesMarco Bani, Selena Russo, Serena Gasperini, et al.Child: Care, Health and Development|February 14, 2023
Parents' experience of the communication process of positivity at newborn screening for metabolic diseases: A qualitative studyMarco Bani, Selena Russo, Erika Raggi, et al.Journal of Inherited Metabolic Disease|September 5, 2024
Long-term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational studyFrançois Feillet, Jean-Baptiste Arnoux, María Bueno Delgado, et al.Italian Journal of Pediatrics|November 24, 2020
Children with special health care needs attending emergency department in Italy: analysis of 3479 casesPaola Cianci, Valeria D'Apolito, Alex Moretti, et al.Nutrients|December 15, 2018
Determinants of Plasma Docosahexaenoic Acid Levels and Their Relationship to Neurological and Cognitive Functions in PKU Patients: A Double Blind Randomized Supplementation StudyHans Demmelmair, Anita MacDonald, Urania Kotzaeridou, et al.International Journal of Molecular Sciences|January 11, 2022
Exosomal MicroRNAs as Potential Biomarkers of Hepatic Injury and Kidney Disease in Glycogen Storage Disease Type Ia PatientsRoberta Resaz, Davide Cangelosi, Daniela Segalerba, et al.Molecular Genetics and Metabolism|July 12, 2020
Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patientsFilippo Manti, Francesca Nardecchia, Giuseppe Banderali, et al.Journal of Inherited Metabolic Disease|February 18, 2020
Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendationsAlessandro Rossi, Irene J Hoogeveen, Vanessa B Bastek, et al.International Journal of Neonatal Screening|May 23, 2025
Expanded Newborn Screening in Italy: The First Report of Lombardy RegionClarissa Berardo, Alessandra Vasco, Alessia Mauri, et al.Pageof 4